Harmonizome 3.0

Ataxia, spastic, 3, autosomal recessive

spastic ataxia 1 (autosomal dominant)

spinocerebellar ataxia, autosomal recessive 2

spinocerebellar ataxia, autosomal recessive 3

nuclear protein, ataxia-telangiectasia locus

Enables transcription coactivator activity and transcription corepressor activity. Involved in cell cycle G1/S phase transition and positive regulation of transcription by RNA polymerase II. Located in Cajal body; Gemini of coiled bodies; and cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

spinocerebellar ataxia with saccadic intrusions

Friedreich ataxia 2

cerebellar ataxia 3 (cerebellar parenchyma disorder 1)

spinocerebellar ataxia 20

spinocerebellar ataxia 21

spinocerebellar ataxia 25

spinocerebellar ataxia 26

Episodic ataxia, type 7

spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)

Episodic ataxia, type 8

Episodic ataxia, type 3

spinocerebellar ataxia, X-linked 2

spinocerebellar ataxia, X-linked 3

spinocerebellar ataxia, X-linked 4

Spinocerebellar ataxia, X-linked 5

ataxia, cerebellar, Cayman type

This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]

spinocerebellar ataxia 9

spinocerebellar ataxia 37

spinocerebellar ataxia 32

spinocerebellar ataxia 30

optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

spastic paraplegia 27 (autosomal recessive)

spastic paraplegia 25 (autosomal recessive, with disc herniation)

spastic paraplegia 24 (autosomal recessive)

spastic paraplegia 21 (autosomal recessive, Mast syndrome)

The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

spastic paraplegia 23 (autosomal recessive)

spastic paraplegia 20 (Troyer syndrome)

This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]

spastic paraplegia 36 (autosomal dominant)

spastic paraplegia 45 (autosomal recessive)

spastic paraplegia 41 (autosomal dominant)

This locus was defined in a Chinese family. Nineteen individuals were genotyped and the interval was defined between D11S1324 and D11S1933. [provided by RefSeq, Feb 2010]

spastic paraplegia 7 (pure and complicated autosomal recessive)

This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]

spastic paraplegia 9 (autosomal dominant)

spastic paraplegia 11 (autosomal recessive)

The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

spastic paraplegia 16 (complicated, X-linked recessive)

spastic paraplegia 18 (autosomal dominant)

spastic paraplegia 19 (autosomal dominant)

spastic paraplegia 14 (autosomal recessive)

spastic paraplegia, optic atrophy, and neuropathy

microcephaly with spastic diplegia (Paine syndrome)

spastic paraplegia 34 (autosomal dominant)

spastic paraplegia 37 (autosomal dominant)

spastic paraplegia 38 (autosomal dominant, Silver syndrome)

spastic paraplegia 3B

spastic paraplegia 32 (autosomal recessive)

spastic paraplegia 29 (autosomal dominant)

spastic paraplegia 5B (autosomal recessive)